Symptoma

Monomelic Amyotrophy

Hirayama Disease

Proximal involvement of the arm and shoulder muscles is an unusual presentation that has been rarely reported in the literature. [ncbi.nlm.nih.gov]

T2 hyperintensity was recorded as either present or absent. [doi.org]

  • Overeating

    A total of 190 patients were diagnosed to have MMA in our institute over the last 27 years and this is the first case of familial MMA. [ncbi.nlm.nih.gov]

    In conclusion, a large cohort of patients with monomelic amyotrophy seen over 35 years (1976–2010) is described. [doi.org]

    Over 20 NEW test entries present the latest tests and procedures, with a strong focus on affordable, clinically relevant genetic tests. [books.google.com]

  • Lordosis

    On neutral studies, cervical lordosis was scored as either normal or abnormal and LOA was determined as either present or absent at each cervical level and the first thoracic level by using the methods described by Chen et al. 8 Cervical lordosis was [doi.org]

    Neutral position MRI showed loss of cervical lordosis in 10/11 (91%), localized lower cervical cord atrophy in 9/11 (82%), asymmetric cord flattening in 11/11 (100%) and intramedullary hyperintensity in 2/11 (18%); flexion study showed loss of dural attachment [ncbi.nlm.nih.gov]

    Studies consistently note a loss of normal neck curvature (the cervical lordosis) and compression of the cervical chord by the dural sac in forward flexion. [en.wikipedia.org]

  • Joint Stiffness

    Physiotherapy is helpful in preventing complications resulting from immobility such as joint stiffness and muscle wasting. [jmedicalcasereports.biomedcentral.com]

  • Shoulder Pain

    He denied history of trauma, shoulder pain, or sensory symptoms, and he was not on any medications prior to development of symptoms. [jmedicalcasereports.biomedcentral.com]

  • Osteophyte

    Furthermore, this atrophy is rarely associated with osteophyte compression of the anterior spinal cord or with disc bulges. [cns.org]

  • Hand Tremor

    Other symptoms are: • Difficulty in gripping • Hand tremors • Weak and atrophied hand, forearm muscles • Weakness of a single limb • Fine motor control issues Diagnoses The diagnostic criterion for Monomelic Amyotrophy isn’t different. [startstemcells.com]

    The signs and symptoms of Hirayama's disease can include: No pain Weak grip Clawed hand Hand tremors Weak hand muscles Wasted hand muscles Wasting of a single limb Weak lower arm muscles Weakness of a single limb Wasted lower arm muscles Fine motor control [disabled-world.com]

  • Long Tract Signs

    Arch Neurol 54 : 46 – 50 1997 Search Google Scholar Export Citation 24 Sakai K Ono K Okamoto Y Murakami H Yamada M : Cervical flexion myelopathy in a patient showing apparent long tract signs: a severe form of Hirayama disease. [doi.org]

  • Gliosis

    Necropsy in 1 patient identified anterior horn cell shrinkage, necrosis, and gliosis in appropriate spinal cord segments. Symptoms and signs often progress for several years before spontaneously arresting. [ncbi.nlm.nih.gov]

    An autopsy study on a patient with MA noticed anterior horn cell shrinkage and necrosis, various degrees of degeneration of small and large nerve cells, mild gliosis, and some circulatory insufficiency in the territory of the spinal cord. [jmedicalcasereports.biomedcentral.com]

treatment is recommended for eligible patients because of its lower associated risks. [ncbi.nlm.nih.gov]

Management and treatment There is no cure for MA. Treatment is conservative and with early detection aims to slow the progression of muscle wasting. [orpha.net]

The purpose of this study was to examine the outcomes of patients with cervical flexion myelopathy who received surgical treatment. Methods A retrospective study was conducted. [doi.org]

Other treatment options include muscle strengthening exercises and therapies to improve hand coordination. [1] Surgery for the treatment of MMA is debated, as there are benefits and risks associated with surgery. [5] People who are diagnosed with MMA [rarediseases.info.nih.gov]

The disease, which is probably of the anterior horn cells, had a benign course and good prognosis, as evident from repeated examinations during a follow-up of eight years. [ncbi.nlm.nih.gov]

Their clinical features, electrophysiology, imaging, muscle biopsy and laboratory tests, treatments, and prognosis were analysed. We compared the results with data from other countries or regions. The mean age at onset was 16.8 years. [doi.org]

Etiology The exact etiology is unknown. [orpha.net]

Axial magnetic resonance imaging demonstrated signal changes of "snake-eye" appearance in the cervical anterior horn region, similar to ischemic myelopathies caused by various etiologies. [ncbi.nlm.nih.gov]

Commentary Blessedly few MA patients come to autopsy, but one such patient demonstrated ischemic changes in C5 to T1 anterior horn cells supporting a vascular etiology ( J Neurol Neurosurg Psychiatry 1987;50:285-290). [ahcmedia.com]

The nationwide epidemiological study in Japan was carried out from 1996 to 1998, identified 333 cases of the disease. There were fewer case reports from other countries than from Japan. [ncbi.nlm.nih.gov]

Summary Epidemiology The prevalence is unknown. It is seen mainly in Asian countries (particularly in Japan and India) with only a very few cases reported in Europe and the United States. [orpha.net]

Divided into four sections, the text begins with an introduction to tropical diseases of the central nervous system, and their epidemiology. [books.google.com]

We call attention to this rare location of MA, as well as describe some theories concerning its pathophysiology . [ncbi.nlm.nih.gov]

The good result obtained in our case suggests that an excessive range of flexion of the cervical spine might play a key role in the pathophysiology of the disease. Thus, a simple and safe anterior fusion procedure could be the best choice. [doi.org]

The pathophysiology of MA remains unknown [ 4 ], but several postulations have been considered, such as viral infections, ischemia to anterior horn cells, and atopy [ 6, 9 ]. [jmedicalcasereports.biomedcentral.com]

We call atention to this rare location of MA, as well as describe some theories concerning its pathophysiology. Key words: lower motor neuron, monomelic amyotrophy, spinal amyotrophy, eletroneuromyograpy. [scielo.br]

Deficits in neuromuscular transmission are considered one of the most important signs in the pathophysiology of ALS. [cyberleninka.org]

But the big story for MS continues to be how to prevent progression. There is still not a single drug that prevents progression. [practicalneurology.com]

As a second-line alternative to cervical collar treatment, surgical anterior cervical decompression and fusion via DDF or CDF may prevent further deterioration and produce good short-term therapeutic effects in patients with MMA; however, cervical collar [ncbi.nlm.nih.gov]

1 Department of Neurosurgery, Taipei Medical University–Wan Fang Hospital; 2 Division of Neurosurgery, Department of Surgery, Taipei County Hospital; 3 Graduate Institute of Clinical Medicine, College of Medicine, and 5 Graduate Institute of Injury Prevention [doi.org]

A cervical collar worn in the early stages of disease has been shown to halt progress of the disease in some cases, as it prevents neck flexion. Muscle strengthening exercises and hand coordination training can also be helpful. [orpha.net]